Featured Research

from universities, journals, and other organizations

Genome-wide hunts reveal new regulators of blood pressure; Genetic variants linked to increased risk of hypertension, stroke and other cardiovascular diseases

Date:
September 12, 2011
Source:
Johns Hopkins Medical Institutions
Summary:
A study involving more than 200,000 people worldwide has identified 29 DNA sequence variations in locations across the human genome that influence blood pressure. These genes, whose sequence changes are associated with alterations in blood pressure and are linked to heart disease and stroke, were found with the help of decades' worth of population data that were pooled and analyzed by a large international consortium.

A study involving more than 200,000 people worldwide has identified 29 DNA sequence variations in locations across the human genome that influence blood pressure. These genes, whose sequence changes are associated with alterations in blood pressure and are linked to heart disease and stroke, were found with the help of decades' worth of population data that were pooled and analyzed by a large international consortium, including Johns Hopkins researchers.

Among the findings was evidence that the same common genetic variants associated with hypertension in European populations also are frequently found in individuals of Asian and African ancestry, according to the report that appears September 11 in Nature.

"A genetic risk score that adds up the effects of all of these variants shows that the more of these variants an individual has, the greater are his or her chances of having hypertension, left ventricular wall thickness, stroke and coronary artery disease," says Aravinda Chakravarti, Ph.D., a professor of medicine, pediatrics and molecular biology and genetics at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins, and one of the lead authors.

The individuals whose genomes were analyzed for this study had their blood pressures recorded when they originally entered other long-term cardiovascular research studies, and scientists used these measures to assess the predictive value of the genes and blood pressures in terms of the subjects' current cardiovascular status.

This genome-wide association study focused on systolic and diastolic blood pressures: measures of the maximum and minimum pressures exerted on the arteries. However, in a related genome-wide investigation reported September 11 in Nature Genetics, the same scientists found an additional six locations across the genome where variants affect blood pressure by focusing on two other relevant measures: pulse pressure (the difference between systolic and diastolic blood pressure) and mean arterial pressure (a weighted average of systolic and diastolic blood pressure). The group conducted a genome-wide association meta-analysis of pulse pressure and mean arterial pressure in 74,064 individuals of European ancestry from 35 studies and then followed up the results in 48,607 additional individuals.

"It's like using four different cops to find the same culprit," Chakravarti says. "The more ways we search for blood pressure genes, the better our ability to understand hypertension, whose affects are not uni-causal."

For the billion-plus people worldwide with hypertension, even small elevations in blood pressure are associated with increased risk of cardiovascular disease. Although it's generally known that hypertension has a familial component, the genetic regulatory mechanisms of blood pressure have been challenging to pin down so far, Chakravarti says, citing similar genetic studies three years ago that failed to detect any genes. He credits the recent spate of genetic discoveries -- more than 300 genes for cardiovascular diseases have been identified in just the last few years -- to the collective analyses of long-term prospective research efforts such as the pioneering Framingham Heart Study, begun in 1948, the Cardiovascular Heath Study, started in 1989, and the Atherosclerosis Risk in Communities (ARIC) study, started in 1987.

"Too often, people look at these studies that have a long provenance and wonder what is it doing for them today," says Chakravarti, who compares the studies to a retirement account. "Researchers visit them time and time again. Without them, this feat of genetic studies would be impossible."

Each genome-wide association study, often referred to as GWAS, reported what effects were observed at which locations on the genome in a scan of single nucleotide polymorphisms (SNPs) throughout the genome. Pronounced snips, SNPs are sites where a single letter in the DNA code is variable between humans.

"Your blood pressure is a function of these genes we just identified as well as perhaps a hundred others we haven't found yet," says Chakravarti. "By revealing the genetic architecture of blood pressure, both studies will help us to understand the biology of cardiovascular diseases and stroke, and, eventually, may lead to better therapies."

Support for the international, multi-institutional project came from many funding mechanisms, including the National Institutes of Health National Heart, Lung and Blood Institute as well as European and private funding agencies.

Of more than 230 scientists who contributed to the Nature study, Chakravarti is a corresponding author. The lead author is Georg B. Ehret, also of the institute. Other Johns Hopkins authors are Vasyl Pihur, Josef Coresh, Judith A. Hoffman-Bolton, Linda Kao, Anna Kottgen, and J.Hunter Young.

In addition to Chakravarti, Johns Hopkins scientists who contributed to the Nature Genetics study include Georg B. Ehret and Vasyl Pihur.


Story Source:

The above story is based on materials provided by Johns Hopkins Medical Institutions. Note: Materials may be edited for content and length.


Journal References:

  1. Wain et al. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nature Genetics, 2011; DOI: 10.1038/ng.922
  2. The International Consortium for Blood Pressure Genome-Wide Association Studies. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature, 2011; DOI: 10.1038/nature10405

Cite This Page:

Johns Hopkins Medical Institutions. "Genome-wide hunts reveal new regulators of blood pressure; Genetic variants linked to increased risk of hypertension, stroke and other cardiovascular diseases." ScienceDaily. ScienceDaily, 12 September 2011. <www.sciencedaily.com/releases/2011/09/110911145215.htm>.
Johns Hopkins Medical Institutions. (2011, September 12). Genome-wide hunts reveal new regulators of blood pressure; Genetic variants linked to increased risk of hypertension, stroke and other cardiovascular diseases. ScienceDaily. Retrieved September 3, 2014 from www.sciencedaily.com/releases/2011/09/110911145215.htm
Johns Hopkins Medical Institutions. "Genome-wide hunts reveal new regulators of blood pressure; Genetic variants linked to increased risk of hypertension, stroke and other cardiovascular diseases." ScienceDaily. www.sciencedaily.com/releases/2011/09/110911145215.htm (accessed September 3, 2014).

Share This



More Health & Medicine News

Wednesday, September 3, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Snack Attack: Study Says Action Movies Make You Snack More

Snack Attack: Study Says Action Movies Make You Snack More

Newsy (Sep. 2, 2014) You're more likely to gain weight while watching action flicks than you are watching other types of programming, says a new study published in JAMA. Video provided by Newsy
Powered by NewsLook.com
U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

Newsy (Sep. 2, 2014) The U.N. says the problem is two-fold — quarantine zones and travel restrictions are limiting the movement of both people and food. Video provided by Newsy
Powered by NewsLook.com
Doctors Fear They're Losing Battle Against Ebola

Doctors Fear They're Losing Battle Against Ebola

AP (Sep. 2, 2014) As a third American missionary is confirmed to have contracted Ebola in Liberia, doctors on the ground in West Africa fear they're losing the battle against the outbreak. (Sept. 2) Video provided by AP
Powered by NewsLook.com
Tech Giants Bet on 3D Headsets for Gaming, Healthcare

Tech Giants Bet on 3D Headsets for Gaming, Healthcare

AFP (Sep. 2, 2014) When Facebook acquired the virtual reality hardware developer Oculus VR in March for $2 billion, CEO Mark Zuckerberg hailed the firm's technology as "a new communication platform." Duration: 02:24 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

More Coverage


Genetic Factors Behind High Blood Pressure

Sep. 20, 2011 High blood pressure is a well-known risk factor for heart disease. An international study of 200,000 Europeans has identified 16 new genetic variations that affect blood pressure. The discovery is an ... read more
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins